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Year : 2022  |  Volume : 39  |  Issue : 1  |  Page : 53-55

A patient with glucose transporter type 1 deficiency syndrome: Paroxysmal choreoathetosis and cerebral positron-emission tomography findings

1 Department of Child Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
2 Department of Nuclear Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
3 Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, United Kingdom

Correspondence Address:
Pinar Topaloğlu
Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Millet Cad. 34093, Capa-Fatih, Istanbul
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/nsn.nsn_127_21

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Glucose transporter type 1 deficiency syndrome (GLUT-1 DS) is an inborn error of metabolism that results in defective glucose transport and consequently a reduced supply of glucose to the brain. Here, we describe a patient with a molecularly proven GLUT-1 mutation who presented with severe paroxysmal choreoathetosis. Different regional changes involving bilateral mesial temporal lobes were revealed using positron-emission tomography (PET). Several cases of GLUT-1 DS have been studied from the point of view of hyperkinetic movement disorders rather than epilepsy and ataxia. It is usual for these patients to first present with dystonia, choreoathetosis, parkinsonism, and paroxysmal exercise-induced dyskinesia, including dystonic, choreoathetotic, and ballistic movements. F18-fluorodeoxyglucose PET revealed hypometabolism in bilateral mesial temporal lobes along with the cerebellar cortex, confirming an impaired glucose metabolism effect on the area responsible for the extrapyramidal movement disorders.

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